Incidental Mutation 'IGL02454:Fads3'
ID 293755
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fads3
Ensembl Gene ENSMUSG00000024664
Gene Name fatty acid desaturase 3
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02454
Quality Score
Status
Chromosome 19
Chromosomal Location 10018933-10037474 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 10032483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 278 (L278R)
Ref Sequence ENSEMBL: ENSMUSP00000111659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115995]
AlphaFold Q9JJE7
Predicted Effect probably damaging
Transcript: ENSMUST00000115995
AA Change: L278R

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000111659
Gene: ENSMUSG00000024664
AA Change: L278R

DomainStartEndE-ValueType
low complexity region 2 25 N/A INTRINSIC
Cyt-b5 27 101 6.21e-16 SMART
Pfam:FA_desaturase 162 423 4.1e-35 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous knockout affects highly unsaturated fatty acid levels in the liver and brain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amz2 T G 11: 109,324,887 (GRCm39) probably benign Het
Atp13a5 A G 16: 29,051,560 (GRCm39) F1104S probably benign Het
Cacna1c T C 6: 118,579,141 (GRCm39) N1610S probably damaging Het
Ccnl1 A T 3: 65,864,318 (GRCm39) D122E probably damaging Het
Crtc2 G A 3: 90,166,474 (GRCm39) G65S probably benign Het
Dnah17 T C 11: 117,971,593 (GRCm39) T2160A probably damaging Het
Foxp4 A T 17: 48,186,507 (GRCm39) L424* probably null Het
Gm10392 A T 11: 77,409,216 (GRCm39) E310V probably damaging Het
Gm11554 T A 11: 99,694,815 (GRCm39) S133C unknown Het
Hacd2 T A 16: 34,926,761 (GRCm39) F253L probably benign Het
Il3ra T C 14: 14,351,113 (GRCm38) S212P probably benign Het
Mdn1 T C 4: 32,694,674 (GRCm39) probably null Het
Mtfr1l A T 4: 134,257,696 (GRCm39) L111H probably damaging Het
Mysm1 A G 4: 94,858,741 (GRCm39) probably benign Het
Or10j2 C A 1: 173,098,507 (GRCm39) S255Y probably damaging Het
Or52d1 T C 7: 103,755,819 (GRCm39) V111A probably damaging Het
Plec A T 15: 76,075,231 (GRCm39) F357I probably damaging Het
Polr3a C A 14: 24,525,891 (GRCm39) V450L possibly damaging Het
Prkd1 T C 12: 50,411,456 (GRCm39) K764R probably benign Het
Pxn C T 5: 115,690,325 (GRCm39) P256S probably damaging Het
Rbm25 T A 12: 83,707,096 (GRCm39) F247L probably benign Het
Rfx4 C T 10: 84,675,970 (GRCm39) T62M possibly damaging Het
Rps4l-ps T C 7: 114,526,499 (GRCm39) noncoding transcript Het
Scn11a A G 9: 119,587,610 (GRCm39) I1378T probably benign Het
Siglecg T C 7: 43,058,319 (GRCm39) S69P probably benign Het
Stox1 T C 10: 62,503,605 (GRCm39) Y61C probably damaging Het
Tex55 T A 16: 38,648,309 (GRCm39) T267S probably benign Het
Tnks C T 8: 35,298,882 (GRCm39) probably benign Het
Tpr A G 1: 150,306,943 (GRCm39) S1587G probably benign Het
Trappc6b A G 12: 59,090,433 (GRCm39) *97Q probably null Het
Usf3 T C 16: 44,037,545 (GRCm39) V675A probably damaging Het
Wdr7 C T 18: 63,929,299 (GRCm39) T1045M probably benign Het
Zc3h11a A T 1: 133,552,254 (GRCm39) C618S probably benign Het
Zfp398 T C 6: 47,817,301 (GRCm39) V47A possibly damaging Het
Zzz3 A G 3: 152,134,211 (GRCm39) N423S probably benign Het
Other mutations in Fads3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Fads3 APN 19 10,029,663 (GRCm39) missense probably null 0.98
IGL00422:Fads3 APN 19 10,033,045 (GRCm39) missense possibly damaging 0.80
IGL01081:Fads3 APN 19 10,030,366 (GRCm39) missense probably benign 0.00
IGL02477:Fads3 APN 19 10,033,806 (GRCm39) missense probably damaging 1.00
R0611:Fads3 UTSW 19 10,019,200 (GRCm39) missense probably damaging 1.00
R1169:Fads3 UTSW 19 10,031,463 (GRCm39) missense possibly damaging 0.82
R1400:Fads3 UTSW 19 10,033,664 (GRCm39) splice site probably null
R1893:Fads3 UTSW 19 10,033,868 (GRCm39) missense probably benign
R2508:Fads3 UTSW 19 10,033,818 (GRCm39) missense probably damaging 1.00
R3151:Fads3 UTSW 19 10,035,262 (GRCm39) missense probably benign 0.01
R4543:Fads3 UTSW 19 10,019,175 (GRCm39) missense possibly damaging 0.60
R4766:Fads3 UTSW 19 10,033,384 (GRCm39) missense possibly damaging 0.94
R4823:Fads3 UTSW 19 10,019,252 (GRCm39) missense probably damaging 0.98
R5117:Fads3 UTSW 19 10,019,322 (GRCm39) critical splice donor site probably null
R5846:Fads3 UTSW 19 10,030,397 (GRCm39) missense probably null 1.00
R6117:Fads3 UTSW 19 10,031,631 (GRCm39) missense probably damaging 1.00
R6225:Fads3 UTSW 19 10,019,202 (GRCm39) missense probably benign 0.25
R9024:Fads3 UTSW 19 10,033,839 (GRCm39) missense probably damaging 1.00
X0027:Fads3 UTSW 19 10,031,614 (GRCm39) missense probably damaging 1.00
Z1176:Fads3 UTSW 19 10,019,171 (GRCm39) missense probably benign 0.23
Posted On 2015-04-16